A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641290



Internal ID6681375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76547444..76586380hg38UCSC Ensembl
chr17:74543526..74582462hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3838937
hg1938937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15744094
SamplesHG03888
Known GenesSNHG16, SNORD1A, SNORD1B, SNORD1C, ST6GALNAC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641290
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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